Works by Mungall, Christopher J.

Results: 63

Phenotype‐driven approaches to enhance variant prioritization and diagnosis of rare disease.

Published in:

Human Mutation, 2022, v. 43, n. 8, p. 1071, doi. 10.1002/humu.24380

By:

Jacobsen, Julius O. B.;
Kelly, Catherine;
Cipriani, Valentina;
Research Consortium, Genomics England;
Mungall, Christopher J.;
Reese, Justin;
Danis, Daniel;
Robinson, Peter N.;
Smedley, Damian

Publication type:

Article

Use of Model Organism and Disease Databases to Support Matchmaking for Human Disease Gene Discovery.

Published in:

Human Mutation, 2015, v. 36, n. 10, p. 979, doi. 10.1002/humu.22857

By:

Mungall, Christopher J.;
Washington, Nicole L.;
Nguyen‐Xuan, Jeremy;
Condit, Christopher;
Smedley, Damian;
Köhler, Sebastian;
Groza, Tudor;
Shefchek, Kent;
Hochheiser, Harry;
Robinson, Peter N.;
Lewis, Suzanna E.;
Haendel, Melissa A.

Publication type:

Article

BioMake: a GNU make-compatible utility for declarative workflow management.

Published in:

Bioinformatics, 2017, v. 33, n. 21, p. 3502, doi. 10.1093/bioinformatics/btx306

By:

Holmes, Ian H.;
Mungall, Christopher J.

Publication type:

Article

A strategy for building neuroanatomy ontologies.

Published in:

2012

By:

Osumi-Sutherland, David;
Reeve, Simon;
Mungall, Christopher J.;
Neuhaus, Fabian;
Ruttenberg, Alan;
Jefferis, Gregory S. X. E.;
Armstrong, J. Douglas

Publication type:

Correction Notice

A strategy for building neuroanatomy ontologies.

Published in:

Bioinformatics, 2012, v. 28, n. 9, p. 1262, doi. 10.1093/bioinformatics/bts113

By:

Osumi-Sutherland, David;
Reeve, Simon;
Mungall, Christopher J.;
Neuhaus, Fabian;
Ruttenberg, Alan;
Jefferis, Gregory S. X. E.;
Armstrong, J. Douglas

Publication type:

Article

AmiGO: online access to ontology and annotation data.

Published in:

Bioinformatics, 2009, v. 25, n. 2, p. 288

By:

Seth Carbon;
Amelia Ireland;
Christopher J. Mungall;
ShengQiang Shu;
Brad Marshall;
Suzanna Lewis;
the AmiGO Hub;
the Web Presence Working Group

Publication type:

Article

A Chado case study: an ontology-based modular schema for representing genome-associated biological information.

Published in:

Bioinformatics, 2007, v. 23, n. 13, p. i337

By:

Christopher J. Mungall;
David B. Emmert;
The FlyBase Consortium

Publication type:

Article

Dovetailing biology and chemistry: integrating the Gene Ontology with the ChEBI chemical ontology.

Published in:

BMC Genomics, 2013, v. 14, n. 1, p. 1, doi. 10.1186/1471-2164-14-513

By:

Hill, David P.;
Adams, Nico;
Bada, Mike;
Batchelor, Colin;
Berardini, Tanya Z.;
Dietze, Heiko;
Drabkin, Harold J.;
Ennis, Marcus;
Foulger, Rebecca E.;
Harris, Midori A.;
Hastings, Janna;
Kale, Namrata S.;
de Matos, Paula;
Mungall, Christopher J.;
Owen, Gareth;
Roncaglia, Paola;
Steinbeck, Christoph;
Turner, Steve;
Lomax, Jane

Publication type:

Article

Transforming the study of organisms: Phenomic data models and knowledge bases.

Published in:

PLoS Computational Biology, 2020, v. 16, n. 11, p. 1, doi. 10.1371/journal.pcbi.1008376

By:

Thessen, Anne E.;
Walls, Ramona L.;
Vogt, Lars;
Singer, Jessica;
Warren, Robert;
Buttigieg, Pier Luigi;
Balhoff, James P.;
Mungall, Christopher J.;
McGuinness, Deborah L.;
Stucky, Brian J.;
Yoder, Matthew J.;
Haendel, Melissa A.

Publication type:

Article

Representing Kidney Development Using the Gene Ontology.

Published in:

PLoS ONE, 2014, v. 9, n. 6, p. 1, doi. 10.1371/journal.pone.0099864

By:

Alam-Faruque, Yasmin;
Hill, David P.;
Dimmer, Emily C.;
Harris, Midori A.;
Foulger, Rebecca E.;
Tweedie, Susan;
Attrill, Helen;
Howe, Douglas G.;
Thomas, Stephen Randall;
Davidson, Duncan;
Woolf, Adrian S.;
Blake, Judith A.;
Mungall, Christopher J.;
O’Donovan, Claire;
Apweiler, Rolf;
Huntley, Rachael P.

Publication type:

Article

A Unified Anatomy Ontology of the Vertebrate Skeletal System.

Published in:

PLoS ONE, 2012, v. 7, n. 12, p. 1, doi. 10.1371/journal.pone.0051070

By:

Dahdul, Wasila M.;
Balhoff, James P.;
Blackburn, David C.;
Diehl, Alexander D.;
Haendel, Melissa A.;
Hall, Brian K.;
Lapp, Hilmar;
Lundberg, John G.;
Mungall, Christopher J.;
Ringwald, Martin;
Segerdell, Erik;
Van Slyke, Ceri E.;
Vickaryous, Matthew K.;
Westerfield, Monte;
Mabee, Paula M.

Publication type:

Article

A Logical Model of Homology for Comparative Biology.

Published in:

Systematic Biology, 2020, v. 69, n. 2, p. 345, doi. 10.1093/sysbio/syz067

By:

Mabee, Paula M;
Balhoff, James P;
Dahdul, Wasila M;
Lapp, Hilmar;
Mungall, Christopher J;
Vision, Todd J

Publication type:

Article

Towards a standard benchmark for phenotype-driven variant and gene prioritisation algorithms: PhEval - Phenotypic inference Evaluation framework.

Published in:

BMC Bioinformatics, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s12859-025-06105-4

By:

Bridges, Yasemin;
Souza, Vinicius de;
Cortes, Katherina G.;
Haendel, Melissa;
Harris, Nomi L.;
Korn, Daniel R.;
Marinakis, Nikolaos M.;
Matentzoglu, Nicolas;
McLaughlin, James A.;
Mungall, Christopher J.;
Odell, Aaron;
Osumi-Sutherland, David;
Robinson, Peter N.;
Smedley, Damian;
Jacobsen, Julius O. B.

Publication type:

Article

The Plant Ontology as a Tool for Comparative Plant Anatomy and Genomic Analyses.

Published in:

Plant & Cell Physiology, 2013, v. 54, n. 2, p. e1, doi. 10.1093/pcp/pcs163

By:

Cooper, Laurel;
Walls, Ramona L.;
Elser, Justin;
Gandolfo, Maria A.;
Stevenson, Dennis W.;
Smith, Barry;
Preece, Justin;
Athreya, Balaji;
Mungall, Christopher J.;
Rensing, Stefan;
Hiss, Manuel;
Lang, Daniel;
Reski, Ralf;
Berardini, Tanya Z.;
Li, Donghui;
Huala, Eva;
Schaeffer, Mary;
Menda, Naama;
Arnaud, Elizabeth;
Shrestha, Rosemary

Publication type:

Article

Semantic integration of clinical laboratory tests from electronic health records for deep phenotyping and biomarker discovery.

Published in:

NPJ Digital Medicine, 2019, v. 2, p. N.PAG, doi. 10.1038/s41746-019-0110-4

By:

Zhang, Xingmin Aaron;
Yates, Amy;
Vasilevsky, Nicole;
Gourdine, J. P.;
Callahan, Tiffany J.;
Carmody, Leigh C.;
Danis, Daniel;
Joachimiak, Marcin P.;
Ravanmehr, Vida;
Pfaff, Emily R.;
Champion, James;
Robasky, Kimberly;
Xu, Hao;
Fecho, Karamarie;
Walton, Nephi A.;
Zhu, Richard L.;
Ramsdill, Justin;
Mungall, Christopher J.;
Köhler, Sebastian;
Haendel, Melissa A.

Publication type:

Article

An open source knowledge graph ecosystem for the life sciences.

Published in:

Scientific Data, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41597-024-03171-w

By:

Callahan, Tiffany J.;
Tripodi, Ignacio J.;
Stefanski, Adrianne L.;
Cappelletti, Luca;
Taneja, Sanya B.;
Wyrwa, Jordan M.;
Casiraghi, Elena;
Matentzoglu, Nicolas A.;
Reese, Justin;
Silverstein, Jonathan C.;
Hoyt, Charles Tapley;
Boyce, Richard D.;
Malec, Scott A.;
Unni, Deepak R.;
Joachimiak, Marcin P.;
Robinson, Peter N.;
Mungall, Christopher J.;
Cavalleri, Emanuele;
Fontana, Tommaso;
Valentini, Giorgio

Publication type:

Article

An integrated metagenomic, metabolomic and transcriptomic survey of Populus across genotypes and environments.

Published in:

Scientific Data, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41597-024-03069-7

By:

Schadt, Christopher;
Martin, Stanton;
Carrell, Alyssa;
Fortner, Allison;
Hopp, Dan;
Jacobson, Dan;
Klingeman, Dawn;
Kristy, Brandon;
Phillips, Jana;
Piatkowski, Bryan;
Miller, Mark A.;
Smith, Montana;
Patil, Sujay;
Flynn, Mark;
Canon, Shane;
Clum, Alicia;
Mungall, Christopher J.;
Pennacchio, Christa;
Bowen, Benjamin;
Louie, Katherine

Publication type:

Article

The Plant Ontology Facilitates Comparisons of Plant Development Stages Across Species.

Published in:

Frontiers in Plant Science, 2019, p. N.PAG, doi. 10.3389/fpls.2019.00631

By:

Walls, Ramona L.;
Cooper, Laurel;
Elser, Justin;
Gandolfo, Maria Alejandra;
Mungall, Christopher J.;
Smith, Barry;
Stevenson, Dennis W.;
Jaiswal, Pankaj

Publication type:

Article

The environment ontology in 2016: bridging domains with increased scope, semantic density, and interoperation.

Published in:

Journal of Biomedical Semantics, 2016, v. 7, p. 1, doi. 10.1186/s13326-016-0097-6

By:

Buttigieg, Pier Luigi;
Pafilis, Evangelos;
Lewis, Suzanna E.;
Schildhauer, Mark P.;
Walls, Ramona L.;
Mungall, Christopher J.

Publication type:

Article

The Cell Ontology 2016: enhanced content, modularization, and ontology interoperability.

Published in:

Journal of Biomedical Semantics, 2016, v. 7, p. 1, doi. 10.1186/s13326-016-0088-7

By:

Diehl, Alexander D.;
Meehan, Terrence F.;
Bradford, Yvonne M.;
Brush, Matthew H.;
Dahdul, Wasila M.;
Dougall, David S.;
Yongqun He;
Osumi-Sutherland, David;
Ruttenberg, Alan;
Sarntivijai, Sirarat;
Van Slyke, Ceri E.;
Vasilevsky, Nicole A.;
Haendel, Melissa A.;
Blake, Judith A.;
Mungall, Christopher J.

Publication type:

Article

FALDO: a semantic standard for describing the location of nucleotide and protein feature annotation.

Published in:

Journal of Biomedical Semantics, 2016, v. 7, p. 1, doi. 10.1186/s13326-016-0067-z

By:

Bolleman, Jerven T.;
Mungall, Christopher J.;
Strozzi, Francesco;
Baran, Joachim;
Dumontier, Michel;
Bonnal, Raoul J. P.;
Buels, Robert;
Hoehndorf, Robert;
Fujisawa, Takatomo;
Katayama, Toshiaki;
Cock, Peter J. A.

Publication type:

Article

TermGenie - a web-application for pattern-based ontology class generation.

Published in:

Journal of Biomedical Semantics, 2014, v. 5, n. 1, p. 1, doi. 10.1186/2041-1480-5-48

By:

Dietze, Heiko;
Berardini, Tanya Z.;
Foulger, Rebecca E.;
Hill, David P.;
Lomax, Jane;
Osumi-Sutherland, David;
Roncaglia, Paola;
Mungall, Christopher J.

Publication type:

Article

Unification of multi-species vertebrate anatomy ontologies for comparative biology in Uberon.

Published in:

Journal of Biomedical Semantics, 2014, v. 5, n. 1, p. 1, doi. 10.1186/2041-1480-5-21

By:

Haendel, Melissa A.;
Balhoff, James P.;
Bastian, Frederic B.;
Blackburn, David C.;
Blake, Judith A.;
Bradford, Yvonne;
Comte, Aurelie;
Dahdul, Wasila M.;
Dececchi, Thomas A.;
Druzinsky, Robert E.;
Hayamizu, Terry F.;
Ibrahim, Nizar;
Lewis, Suzanna E.;
Mabee, Paula M.;
Niknejad, Anne;
Robinson-Rechavi, Marc;
Sereno, Paul C.;
Mungall, Christopher J.

Publication type:

Article

The environment ontology: contextualising biological and biomedical entities.

Published in:

Journal of Biomedical Semantics, 2013, v. 4, n. 1, p. 2, doi. 10.1186/2041-1480-4-43

By:

Buttigieg, Pier Luigi;
Morrison, Norman;
Smith, Barry;
Mungall, Christopher J.;
Lewis, Suzanna E.

Publication type:

Article

An evaluation of GPT models for phenotype concept recognition.

Published in:

BMC Medical Informatics & Decision Making, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12911-024-02439-w

By:

Groza, Tudor;
Caufield, Harry;
Gration, Dylan;
Baynam, Gareth;
Haendel, Melissa A.;
Robinson, Peter N.;
Mungall, Christopher J.;
Reese, Justin T.

Publication type:

Article

The Environmental Conditions, Treatments, and Exposures Ontology (ECTO): connecting toxicology and exposure to human health and beyond.

Published in:

Journal of Biomedical Semantics, 2023, v. 14, n. 1, p. 1, doi. 10.1186/s13326-023-00283-x

By:

Chan, Lauren E.;
Thessen, Anne E.;
Duncan, William D.;
Matentzoglu, Nicolas;
Schmitt, Charles;
Grondin, Cynthia J.;
Vasilevsky, Nicole;
McMurry, Julie A.;
Robinson, Peter N.;
Mungall, Christopher J.;
Haendel, Melissa A.

Publication type:

Article

The OBO Foundry: coordinated evolution of ontologies to support biomedical data integration.

Published in:

Nature Biotechnology, 2007, v. 25, n. 11, p. 1251, doi. 10.1038/nbt1346

By:

Smith, Barry;
Ashburner, Michael;
Rosse, Cornelius;
Bard, Jonathan;
Bug, William;
Ceusters, Werner;
Goldberg, Louis J.;
Eilbeck, Karen;
Ireland, Amelia;
Mungall, Christopher J.;
Leontis, Neocles;
Rocca-Serra, Philippe;
Ruttenberg, Alan;
Sansone, Susanna-Assunta;
Scheuermann, Richard H.;
Nigam Shah;
Whetzel, Patricia L.;
Lewis, Suzanna

Publication type:

Article

Linking Human Diseases to Animal Models Using Ontology-Based Phenotype Annotation.

Published in:

PLoS Biology, 2009, v. 7, n. 11, p. 1, doi. 10.1371/journal.pbio.1000247

By:

Washington, Nicole L.;
Haendel, Melissa A.;
Mungall, Christopher J.;
Ashburner, Michael;
Westerfield, Monte;
Lewis, Suzanna E.

Publication type:

Article

Node-degree aware edge sampling mitigates inflated classification performance in biomedical random walk-based graph representation learning.

Published in:

Bioinformatics Advances, 2024, v. 4, n. 1, p. 1, doi. 10.1093/bioadv/vbae036

By:

Cappelletti, Luca;
Rekerle, Lauren;
Fontana, Tommaso;
Hansen, Peter;
Casiraghi, Elena;
Ravanmehr, Vida;
Mungall, Christopher J;
Yang, Jeremy J;
Spranger, Leonard;
Karlebach, Guy;
Caufield, J Harry;
Carmody, Leigh;
Coleman, Ben;
Oprea, Tudor I;
Reese, Justin;
Valentini, Giorgio;
Robinson, Peter N

Publication type:

Article

ONTOLOGIES AS INTEGRATIVE TOOLS FOR PLANT SCIENCE.

Published in:

American Journal of Botany, 2012, v. 99, n. 8, p. 1263, doi. 10.3732/ajb.1200222

By:

Walls, Ramona L.;
Athreya, Balaji;
Cooper, Laurel;
Elser, Justin;
Gandolfo, Maria A.;
Jaiswal, Pankaj;
Mungall, Christopher J.;
Preece, Justin;
Rensing, Stefan;
Smith, Barry;
Stevenson, Dennis W.

Publication type:

Article

Automated annotation of scientific texts for ML-based keyphrase extraction and validation.

Published in:

Database: The Journal of Biological Databases & Curation, 2024, v. 2024, p. 1, doi. 10.1093/database/baae093

By:

Amusat, Oluwamayowa O;
Hegde, Harshad;
Mungall, Christopher J;
Giannakou, Anna;
Byers, Neil P;
Gunter, Dan;
Fagnan, Kjiersten;
Ramakrishnan, Lavanya

Publication type:

Article

FAIR principles and the IEDB: short-term improvements and a long-term vision of OBO-foundry mediated machine-actionable interoperability.

Published in:

Database: The Journal of Biological Databases & Curation, 2018, v. 2018, p. 1, doi. 10.1093/database/bax105

By:

Vita, Randi;
Overton, James A;
Mungall, Christopher J;
Sette, Alessandro;
Peters, Bjoern

Publication type:

Article

Modeling biochemical pathways in the gene ontology.

Published in:

Database: The Journal of Biological Databases & Curation, 2016, v. 2016, p. 1, doi. 10.1093/database/baw126

By:

Hill, David P.;
D'Eustachio, Peter;
Berardini, Tanya Z.;
Mungall, Christopher J.;
Renedo, Nikolai;
Blake, Judith A.

Publication type:

Article

Standardized description of scientific evidence using the Evidence Ontology (ECO).

Published in:

Database: The Journal of Biological Databases & Curation, 2014, v. 2014, p. 1, doi. 10.1093/database/bau075

By:

Chibucos, Marcus C.;
Mungall, Christopher J.;
Balakrishnan, Rama;
Christie, Karen R.;
Huntley, Rachael P.;
White, Owen;
Blake, Judith A.;
Lewis, Suzanna E.;
Giglio, Michelle

Publication type:

Article

Dovetailing biology and chemistry: integrating the Gene Ontology with the ChEBI chemical ontology.

Published in:

BMC Genomics, 2013, v. 14, n. 1, p. 1, doi. 10.1186/1471-2164-14-513

By:

Hill, David P.;
Adams, Nico;
Bada, Mike;
Batchelor, Colin;
Berardini, Tanya Z.;
Dietze, Heiko.;
Drabkin, Harold J.;
Ennis, Marcus;
Foulger, Rebecca E.;
Harris, Midori A.;
Hastings, Janna.;
Kale, Namrata S.;
de Matos, Paula;
Mungall, Christopher J.;
Owen, Gareth;
Roncaglia, Paola;
Steinbeck, Christoph;
Turner, Steve;
Lomax, Jane

Publication type:

Article

On the Use of Gene Ontology Annotations to Assess Functional Similarity among Orthologs and Paralogs: A Short Report.

Published in:

PLoS Computational Biology, 2012, v. 8, n. 2, p. 1, doi. 10.1371/journal.pcbi.1002386

By:

Thomas, Paul D.;
Wood, Valerie;
Mungall, Christopher J.;
Lewis, Suzanna E.;
Blake, Judith A.

Publication type:

Article

Unifying the identification of biomedical entities with the Bioregistry.

Published in:

Scientific Data, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41597-022-01807-3

By:

Hoyt, Charles Tapley;
Balk, Meghan;
Callahan, Tiffany J.;
Domingo-Fernández, Daniel;
Haendel, Melissa A.;
Hegde, Harshad B.;
Himmelstein, Daniel S.;
Karis, Klas;
Kunze, John;
Lubiana, Tiago;
Matentzoglu, Nicolas;
McMurry, Julie;
Moxon, Sierra;
Mungall, Christopher J.;
Rutz, Adriano;
Unni, Deepak R.;
Willighagen, Egon;
Winston, Donald;
Gyori, Benjamin M.

Publication type:

Article

Phenopacket-tools: Building and validating GA4GH Phenopackets.

Published in:

PLoS ONE, 2023, v. 18, n. 5, p. 1, doi. 10.1371/journal.pone.0285433

By:

Danis, Daniel;
Jacobsen, Julius O. B.;
Wagner, Alex H.;
Groza, Tudor;
Beckwith, Martha A.;
Rekerle, Lauren;
Carmody, Leigh C.;
Reese, Justin;
Hegde, Harshad;
Ladewig, Markus S.;
Seitz, Berthold;
Munoz-Torres, Monica;
Harris, Nomi L.;
Rambla, Jordi;
Baudis, Michael;
Mungall, Christopher J.;
Haendel, Melissa A.;
Robinson, Peter N.

Publication type:

Article

The Ontology of Biological Attributes (OBA)—computational traits for the life sciences.

Published in:

Mammalian Genome, 2023, v. 34, n. 3, p. 364, doi. 10.1007/s00335-023-09992-1

By:

Stefancsik, Ray;
Balhoff, James P.;
Balk, Meghan A.;
Ball, Robyn L.;
Bello, Susan M.;
Caron, Anita R.;
Chesler, Elissa J.;
de Souza, Vinicius;
Gehrke, Sarah;
Haendel, Melissa;
Harris, Laura W.;
Harris, Nomi L.;
Ibrahim, Arwa;
Koehler, Sebastian;
Matentzoglu, Nicolas;
McMurry, Julie A.;
Mungall, Christopher J.;
Munoz-Torres, Monica C.;
Putman, Tim;
Robinson, Peter

Publication type:

Article

GA4GH Phenopackets: A Practical Introduction.

Published in:

Advanced Genetics, 2023, v. 4, n. 1, p. 1, doi. 10.1002/ggn2.202200016

By:

Ladewig, Markus S.;
Jacobsen, Julius O. B.;
Wagner, Alex H.;
Danis, Daniel;
El Kassaby, Baha;
Gargano, Michael;
Groza, Tudor;
Baudis, Michael;
Steinhaus, Robin;
Seelow, Dominik;
Bechrakis, Nikolaos E.;
Mungall, Christopher J.;
Schofield, Paul N.;
Elemento, Olivier;
Smith, Lindsay;
McMurry, Julie A.;
Munoz‐Torres, Monica;
Haendel, Melissa A.;
Robinson, Peter N.

Publication type:

Article

SvAnna: efficient and accurate pathogenicity prediction of coding and regulatory structural variants in long-read genome sequencing.

Published in:

Genome Medicine, 2022, v. 14, n. 1, p. 1, doi. 10.1186/s13073-022-01046-6

By:

Danis, Daniel;
Jacobsen, Julius O. B.;
Balachandran, Parithi;
Zhu, Qihui;
Yilmaz, Feyza;
Reese, Justin;
Haimel, Matthias;
Lyon, Gholson J.;
Helbig, Ingo;
Mungall, Christopher J.;
Beck, Christine R.;
Lee, Charles;
Smedley, Damian;
Robinson, Peter N.

Publication type:

Article

Muscle Logic: New Knowledge Resource for Anatomy Enables Comprehensive Searches of the Literature on the Feeding Muscles of Mammals.

Published in:

PLoS ONE, 2016, v. 11, n. 2, p. 1, doi. 10.1371/journal.pone.0149102

By:

Druzinsky, Robert E.;
Balhoff, James P.;
Crompton, Alfred W.;
Done, James;
German, Rebecca Z.;
Haendel, Melissa A.;
Herrel, Anthony;
Herring, Susan W.;
Lapp, Hilmar;
Mabee, Paula M.;
Muller, Hans-Michael;
Mungall, Christopher J.;
Sternberg, Paul W.;
Van Auken, Kimberly;
Vinyard, Christopher J.;
Williams, Susan H.;
Wall, Christine E.

Publication type:

Article

Gateways to the FANTOM5 promoter level mammalian expression atlas.

Published in:

Genome Biology, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s13059-014-0560-6

By:

Lizio, Marina;
Harshbarger, Jayson;
Hisashi Shimoji;
Severin, Jessica;
Takeya Kasukawa;
Sahin, Serkan;
Abugessaisa, Imad;
Shiro Fukuda;
Fumi Hori;
Sachi Ishikawa-Kato;
Mungall, Christopher J.;
Arner, Erik;
Baillie, J. Kenneth;
Bertin, Nicolas;
Hidemasa Bono;
de Hoon, Michiel;
Diehl, Alexander D.;
Dimont, Emmanuel;
Freeman, Tom C.;
Kaori Fujieda

Publication type:

Article

Deletions of chromosomal regulatory boundaries are associated with congenital disease.

Published in:

Genome Biology, 2014, v. 15, n. 7, p. 423, doi. 10.1186/s13059-014-0423-1

By:

Ibn-Salem, Jonas;
Köhler, Sebastian;
Love, Michael I.;
Ho-Ryun Chung;
Ni Huang;
Hurles, Matthew E.;
Haendel, Melissa;
Washington, Nicole L.;
Smedley, Damian;
Mungall, Christopher J.;
Lewis, Suzanna E.;
Ott, Claus-Eric;
Bauer, Sebastian;
Schofield, Paul N.;
Mundlos, Stefan;
Spielmann, Malte;
Robinson, Peter N.

Publication type:

Article

Uberon, an integrative multi-species anatomy ontology.

Published in:

Genome Biology, 2012, v. 13, n. 1, p. 1, doi. 10.1186/gb-2012-13-1-r5

By:

Mungall, Christopher J.;
Torniai, Carlo;
Gkoutos, Georgios V.;
Lewis, Suzanna E.;
Haendel, Melissa A.

Publication type:

Article

A method for increasing expressivity of Gene Ontology annotations using a compositional approach.

Published in:

BMC Bioinformatics, 2014, v. 15, n. 1, p. 1, doi. 10.1186/1471-2105-15-155

By:

Huntley, Rachael P.;
Harris, Midori A.;
Alam-Faruque, Yasmin;
Blake, Judith A.;
Carbon, Seth;
Dietze, Heiko;
Dimmer, Emily C.;
Foulger, Rebecca E.;
Hil, David P.;
Khodiyar, Varsha K.;
Lock, Antonia;
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